ABSTRACT
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is a rare autosomal recessive inborn error of mitochondrial fatty acid oxidation. MCAD is essential for fatty acid ß-oxidation during hepatic ketogenesis, which provides a major source of energy once hepatic glycogen stores are exhausted during extended fasting and periods of increased energy demand. The inability to metabolize these fatty acids results in hypoketotic hypoglycemia and the accumulation of toxic partially metabolized fatty acids. Intercurrent infection, extended fasting, excessive alcohol intake, vomiting, or diarrhea can lead to serious illness, including encephalopathy and even sudden death. Young people with MCADD are followed up on a regular basis by their metabolic disease specialist, and they are informed about risk factors as they advance through adolescence and adulthood. They should also carry along a written emergency management plan and relevant contact numbers. We describe a case of a 17-year-old female who attended her local emergency care center complaining of severe abdominal pain, vomiting, muscle ache, and poor oral intake. She was known to have MCADD; however, her emergency care plan had a date from eight years ago. She made a rapid recovery after receiving intravenous glucose and other therapies. The patient's concerns and knowledge about MCADD were not fully appreciated at the initial stage due to the rare nature of the disease. This in combination with the absence of current notes on the system, an emergency care plan dated from eight years ago, and the need to obtain specialist advice led to a slight delay in commencing specific therapy. This case report serves as a reminder of the emergency presentation of young people with MCADD, emphasizing the importance of effective communication between the patient, their parents, and the treating clinicians, obtaining the emergency care plan and recommendations, and communicating with the metabolic disease specialist.
ABSTRACT
BACKGROUND: Necrotising fasciitis (NF) is a severe, devastating soft tissue infection characterised by rapidly progressing tissue necrosis. This rare condition has a high mortality rate and poses diagnostic and management challenges to the clinician. There is usually a history of trauma, which maybe trivial. Some of the premorbid conditions associated with NF are diabetes and or immunocompromised state. It requires prompt recognition and early treatment with intravenous antibiotics and extensive surgical debridement. CASE PRESENTATION: We describe a 74-year-old lady who presented to our emergency department following 3 days' history of watery diarrhoea and feeling generally unwell. She had signs of severe sepsis and was started on broad-spectrum intravenous antibiotics and fluids for sepsis with unknown source. She was found to have an area of blackish discolouration on her thigh which was suspected as necrotising fasciitis (NF) and referred to the surgeons. She had no history of trauma or significant comorbidity. She underwent surgical exploration and debridement within few hours of arrival into the emergency department and subsequent further debridement with above-knee amputation of the affected limb. She eventually died after about 48 h of hospital stay despite an early diagnosis and prompt surgical debridement and a multidisciplinary approach. CONCLUSIONS: Necrotising fasciitis has been previously reported in literature but we would like to highlight through this case the importance of looking for the source of sepsis by thorough clinical examination and the need to have a high threshold of suspicion for this rare condition and urgent involvement of a surgical team for debridement.
ABSTRACT
Iatrogenic nerve injuries have been rarely reported following laparoscopic abdominal surgeries. These can be serious complications with the potential for long-term disability. We present a rare case of bilateral sciatic nerve palsy following laparoscopic sleeve gastrectomy on a super-super-obese male with BMI 78.04 kg/m2. The procedure was completed laparoscopically in 7 hours duration, and in spite of adequate precautions, he developed bilateral sciatic nerve palsy. Nerve conduction studies showed denervation of L5/S1 confirming the diagnosis. The patient showed gradual recovery with physiotherapy, and at 18 months follow-up he was mobilizing without any walking aids, with BMI 47.34 kg/m2. Compressive nerve injuries following prolonged laparoscopic operations should be included in the list of procedural complications, especially in morbidly obese patients where the risk is significantly higher.
